We use cookies to enhance your experience on our website. By continuing to use our website, you are agreeing to our use of cookies. You can change your cookie settings at any time.Find out moreJump to
Content

This new edition of Chromosome Abnormalities and Genetic Counseling is a thoroughly updated ands richly-illustrated resource, combining basic concepts of chromosomal analysis with practical ...
More

This new edition of Chromosome Abnormalities and Genetic Counseling is a thoroughly updated ands richly-illustrated resource, combining basic concepts of chromosomal analysis with practical applications of recent advances in molecular cytogentics. It gives counselors the information that will enable them to help concerned parents accommodate and adapt to their particular chromosomal challenges and to determine what may be, for them, the best course of action.Less

Medical geneticists and genetic counselors regularly see families attending the genetic counseling clinic with questions about chromosome abnormalities. These families may themselves have ...
More

Medical geneticists and genetic counselors regularly see families attending the genetic counseling clinic with questions about chromosome abnormalities. These families may themselves have had a child affected with a chromosome condition; or, there may have been a history elsewhere in the family. The presentation may have been due to infertility or reproductive loss. Questions may include the following: What is known about this condition? What caused this to happen? Is it likely to happen again? If so, is there a way to prevent it from happening again? The power of molecular approaches to chromosome analysis, coming to be routinely available in this second decade of the twenty-first century, has brought to our knowledge many new “chromosomal syndromes” to add alongside those long known from the days of classical cytogenetics. This new knowledge has increased our ability to answer the questions that families may have; but equally, it has raised challenges in interpretation, as molecular karyotyping has revealed more complexity in the way the human genome is constructed. This book distils the knowledge that has evolved in recent and olden times, and it presents the information in a way that will be helpful to the practitioner. In particular, the risks of recurrence, or of occurrence, of a particular chromosome disorder are clearly set forth. The application of chromosomal knowledge to reproductive conditions, both diagnostically and in management, is rehearsed.Less

Duchenne Muscular Dystrophy, an inherited and progressive muscle wasting disease, is one of the most common single gene disorders found in the developed world. In this fourth edition of the ...
More

Duchenne Muscular Dystrophy, an inherited and progressive muscle wasting disease, is one of the most common single gene disorders found in the developed world. In this fourth edition of the classic monograph on the topic, Alan Emery and Francesco Muntoni are joined by Rosaline Quinlivan, Consultant in Neuromuscular Disorders, to provide a thorough update on all aspects of the disorder. Recent understanding of the nature of the genetic defect responsible for Duchenne Muscular Dystrophy and isolation of the protein dystrophin has led to the development of new theories for the disease's pathogenesis. This new edition incorporates these advances from the field of molecular biology, and describes the resultant opportunities for screening, prenatal diagnosis, genetic counselling and from recent pioneering work with anti-sense oligonucleotides, the possibility of effective RNA therapy. Although there is still no cure for the disorder, there have been significant developments concerning the gene basis, publication of standards of care guidelines, and improvements in management leading to significantly longer survival, particularly with cardio-pulmonary care. The authors also investigate other forms of pharmacological, cellular and gene therapies.Less

Chapters provides overview of pathways of development and reviews of dysmorphic syndromes for which the causative gene has been identified. For each disorder, an analysis of the role of the ...
More

Chapters provides overview of pathways of development and reviews of dysmorphic syndromes for which the causative gene has been identified. For each disorder, an analysis of the role of the gene in the relevant developmental pathway is provided, along with the mechanism by which mutations in the gene cause the developmental pathology. Emphasis is placed the developmental roles of genes in the causation of hereditary conditions affecting appearance and function.Less

This highly anticipated new edition brings together an expert group of authors to provide a comprehensive, systematic sourcebook on genetic diseases of the eye. Each chapter emphasizes the ...
More

This highly anticipated new edition brings together an expert group of authors to provide a comprehensive, systematic sourcebook on genetic diseases of the eye. Each chapter emphasizes the clinical aspects of disease, tying them to the underlying molecular mechanisms and outlining current therapy. While the molecular underpinnings, testing methods and therapy of genetic disorders continues to evolve, the clinical aspects are well established and are emphasized in this book. A large number of color figures are utilized to illustrate the various chapters.Less

This book is a readable, reliable guide to the diagnosis and differential of inherited skin disorders to which generalists, paediatricians, dermatologists, and geneticists can refer during ...
More

This book is a readable, reliable guide to the diagnosis and differential of inherited skin disorders to which generalists, paediatricians, dermatologists, and geneticists can refer during an examination. The new edition reflects the most up-to-date understanding of the molecular and genetic bases of heritable skin diseases. Each chapter describes the signs and symptoms of heritable skin diseases and enumerates pertinent associated clinical features and differential diagnoses. Non-dermatological signs are symptoms round out the information on each condition. Where appropriate, descriptions of histopathology at both the light and electron microscopic levels are included. Over 800 full-colour photographs illustrate the concepts discussed in the text. Annotated bibliographies at the end of each section direct readers to more extensive sources, and an updated listing of support groups for patients and their families supplements the resources for medical professionals.Less

This resource addresses both the molecular and clinical features of the obesity syndromes, providing hard-core information for researchers and practical guidelines for clinicians caring for ...
More

This resource addresses both the molecular and clinical features of the obesity syndromes, providing hard-core information for researchers and practical guidelines for clinicians caring for obese patients.Less

Genomics and Health in the Developing World provides detailed and comprehensive coverage of population structures, human genomics, and genome variation - with particular emphasis on medical ...
More

Genomics and Health in the Developing World provides detailed and comprehensive coverage of population structures, human genomics, and genome variation - with particular emphasis on medical and health issues - in the emerging economies and countries of the developing world. With sections dedicated to fundamentals of genetics and genomics, epidemiology of human disease, biomarkers, comparative genomics, developments in translational genomic medicine, current and future health strategies related to genetic disease, and pertinent legislative and social factors, this resource highlights the importance of utilizing genetics/genomics knowledge to promote and achieve optimal health in the developing world. Grouped by geographic region, the chapters in this volume address inherited disorders in the developing world, the progress of diagnostic laboratory genetic testing, prenatal screening, and genetic counseling worldwide, the ethical and legal concerns of medical genetics in the developing world, and social, cultural, and religious issues related to genetic diseases across continents.Less

This fourth edition of Huntington's disease presents a comprehensive summary of the current knowledge of this disease, including the major scientific and clinical advances that have ...
More

This fourth edition of Huntington's disease presents a comprehensive summary of the current knowledge of this disease, including the major scientific and clinical advances that have occurred since publication of the third edition in 2002. Completely updated and expanded, chapters in this volume are organized in five sections, which include clinical aspects of Huntington's disease (historical perspectives, neurological, neuropsychiatric, and neuropsychological aspects, and juvenile Huntington's), the genetics of Huntington's disease (epidemiology discussions of new testing guidelines), neurobiology (correlations between pathology and symptoms and neuronal circuitry), the molecular biology of Huntington's disease (the normal function of huntingtin, molecular pathogenesis, the peripheral pathology of the disorder, and structural biology), and an updated description of the comprehensive care for Huntington's disease (preclinical therapeutics and the state of the art of experimental therapeutics and clinical trials).Less

Works on inborn errors of metabolism (IEMs) have traditionally focused on classical biochemistry, clinical presentation, and standard treatment approaches. Inborn Errors of Metabolism is an ...
More

Works on inborn errors of metabolism (IEMs) have traditionally focused on classical biochemistry, clinical presentation, and standard treatment approaches. Inborn Errors of Metabolism is an expansion on this model, one that establishes an innovative pathway approach and provides a new authority on this family of disease. Alongside the standard cadre of molecular and clinical underpinnings, this title includes coverage of new-born screenings and an overarching treatment of IEMs as complex diseases — how basic alterations can lead to complex secondary and tertiary effects in metabolism that contribute to increasingly recognized natural histories of disease.Less